Genetic interstitial lung disease

遗传性间质性肺病

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Abstract

The interstitial lung diseases (ILDs), or diffuse parenchymal lung diseases, are a heterogeneous collection of more than 100 different pulmonary disorders that affect the tissue and spaces surrounding the alveoli. Patients affected by ILD usually present with shortness of breath or cough; for many, there is evidence of pulmonary restriction, decreased diffusion capacity, and radiographic appearance of alveolar and/or reticulonodular infiltrates. This article reviews the inherited ILDs, with a focus on the diseases that may be seen by pulmonologists caring for adult patients. The authors conclude by briefly discussing the utility of genetic testing in this population.

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